doi:10.1038/nindia.2018.17 Published online 9 February 2018
Researchers in Mumbai have identified the genetic variation (or single nucleotide polymorphism) which may be responsible for putting certain individuals at high risk of acute myocardial infarction (AMI) or heart attacks1.
Single Nucleotide Polymorphisms or SNPs represent differences in a single nucleotide that occur at a specific position in the DNA along the entire human genome. They help predict the risk of individuals developing particular diseases.
Although the conventional risk factors for AMI are age, smoking, hypertension and diabetes, "a large proportion of the inter-individual variability is due to inherited factors," the authors from Sir H. N. Hospital & Research Centre and Dhirubhai Ambani Life Sciences Centre report.
Their study involved 208 AMI patients and 227 controls aimed at constructing SNP maps to identify SNPs and genes associated with AMI using high-throughput microarray analysis. After screening for 48,742 SNPs, the scientists narrowed down their search to five SNPs and subsequently to one SNP called rs9978223.
"rs9978223 was identified to be associated with increased risk in AMI patients in India," the researchers say. This SNP is located on the gene called 'interferon gamma receptor 2' (IFNGR2), the second subunit of the receptor for IFN-gamma, an important cytokine in inflammatory reactions, they say.
1. Shalia, K. et al. Identification of a single nucleotide polymorphism indicative of high risk in acute myocardial infarction. Ind. J. Med. Res. 146, 505-513 (2017)